Progress in diagnosis and treatment of medium chain acyl coenzyme A dehydrogenase deficiency
- Author:
Hui ZOU
1
;
Yu-lin LI
1
;
Li-ping TIAN
1
Author Information
- Publication Type:Journal Article
- Keywords: medium chain acyl-CoA dehydrogenase deficiency; metabolism; decompensation
- From: Chinese Journal of Practical Pediatrics 2019;34(01):22-25
- CountryChina
- Language:Chinese
- Abstract: Medium chain acyl CoA dehydrogenase deficiency is a mitochondrial fatty acid oxidative deficiency disease. It has various clinical manifestations,such as hypoglycemia,lethargy,myasthenia,etc. Different clinical manifestations and atypical biochemical examination can increase the difficulty of diagnosis,which is more likely to result in misdiagnosis. If it is not treated in time,mortality and the rate of sequelae are high,but if confirmed by neonatal screening and treated in time,satisfactory results can be obtained.
